Incidental Mutation 'R6590:Slc26a8'
ID 524717
Institutional Source Beutler Lab
Gene Symbol Slc26a8
Ensembl Gene ENSMUSG00000036196
Gene Name solute carrier family 26, member 8
Synonyms
MMRRC Submission 044714-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # R6590 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 28856757-28909207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28863629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 710 (I710T)
Ref Sequence ENSEMBL: ENSMUSP00000110412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114764]
AlphaFold Q8R0C3
Predicted Effect possibly damaging
Transcript: ENSMUST00000114764
AA Change: I710T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110412
Gene: ENSMUSG00000036196
AA Change: I710T

DomainStartEndE-ValueType
Pfam:Sulfate_transp 90 491 1.2e-72 PFAM
low complexity region 494 509 N/A INTRINSIC
Pfam:STAS 542 792 7.3e-16 PFAM
low complexity region 881 896 N/A INTRINSIC
low complexity region 923 958 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (28/28)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit male sterility associated with sperm immotility, abnormal flagella and reduced acrosomal reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,115,062 (GRCm39) G628D probably damaging Het
Ahnak G T 19: 8,986,945 (GRCm39) G2743V probably benign Het
Akr1c14 A T 13: 4,113,713 (GRCm39) T82S possibly damaging Het
Ccdc7b A G 8: 129,904,700 (GRCm39) T113A probably benign Het
Cep152 A T 2: 125,406,290 (GRCm39) L1414Q probably damaging Het
Chd8 T C 14: 52,464,694 (GRCm39) E658G possibly damaging Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Coro6 A G 11: 77,356,606 (GRCm39) T105A probably benign Het
Cux1 A G 5: 136,368,971 (GRCm39) I232T probably damaging Het
Dmrt1 A G 19: 25,523,449 (GRCm39) T267A probably benign Het
Fam149a G T 8: 45,802,071 (GRCm39) A387E probably damaging Het
Fat4 G A 3: 39,037,688 (GRCm39) G3780D probably damaging Het
Igf2r A T 17: 12,910,824 (GRCm39) L1998* probably null Het
Iqcf6 C T 9: 106,504,501 (GRCm39) T55I possibly damaging Het
Mterf3 G A 13: 67,065,110 (GRCm39) L264F probably damaging Het
Or10k2 G T 8: 84,267,904 (GRCm39) V44L probably benign Het
Or8g32 A G 9: 39,305,845 (GRCm39) I253V probably benign Het
Pcdhgb7 A T 18: 37,886,050 (GRCm39) I407F probably benign Het
Pip4k2b T C 11: 97,620,393 (GRCm39) D114G probably damaging Het
Plbd1 G T 6: 136,612,598 (GRCm39) N198K probably damaging Het
Prkcb T C 7: 121,888,737 (GRCm39) I57T probably damaging Het
Ralgapa1 C T 12: 55,769,558 (GRCm39) probably null Het
Smc2 A T 4: 52,449,375 (GRCm39) I179L probably benign Het
Tmub2 C T 11: 102,178,345 (GRCm39) H83Y probably damaging Het
Trip11 C A 12: 101,851,710 (GRCm39) D785Y possibly damaging Het
Vill A G 9: 118,890,975 (GRCm39) T194A probably benign Het
Vmn2r59 T C 7: 41,695,890 (GRCm39) D174G probably damaging Het
Other mutations in Slc26a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01466:Slc26a8 APN 17 28,873,922 (GRCm39) missense probably benign 0.01
IGL02041:Slc26a8 APN 17 28,861,225 (GRCm39) missense probably damaging 1.00
IGL02389:Slc26a8 APN 17 28,857,624 (GRCm39) missense probably benign 0.00
E0370:Slc26a8 UTSW 17 28,861,361 (GRCm39) missense possibly damaging 0.77
FR4449:Slc26a8 UTSW 17 28,857,290 (GRCm39) small deletion probably benign
R1028:Slc26a8 UTSW 17 28,891,772 (GRCm39) missense probably damaging 1.00
R1445:Slc26a8 UTSW 17 28,867,187 (GRCm39) missense possibly damaging 0.72
R1501:Slc26a8 UTSW 17 28,857,536 (GRCm39) missense possibly damaging 0.73
R1606:Slc26a8 UTSW 17 28,857,455 (GRCm39) missense possibly damaging 0.73
R1819:Slc26a8 UTSW 17 28,903,808 (GRCm39) missense probably benign 0.31
R1950:Slc26a8 UTSW 17 28,863,614 (GRCm39) missense probably benign 0.06
R1973:Slc26a8 UTSW 17 28,882,579 (GRCm39) missense probably benign 0.01
R2203:Slc26a8 UTSW 17 28,866,981 (GRCm39) missense probably benign 0.06
R3912:Slc26a8 UTSW 17 28,863,753 (GRCm39) missense possibly damaging 0.92
R4176:Slc26a8 UTSW 17 28,866,973 (GRCm39) missense probably benign 0.04
R4539:Slc26a8 UTSW 17 28,878,591 (GRCm39) missense probably benign 0.00
R4661:Slc26a8 UTSW 17 28,857,658 (GRCm39) missense probably benign 0.04
R4766:Slc26a8 UTSW 17 28,857,635 (GRCm39) missense probably benign 0.01
R4850:Slc26a8 UTSW 17 28,873,857 (GRCm39) missense probably benign 0.01
R4867:Slc26a8 UTSW 17 28,882,608 (GRCm39) missense probably benign 0.05
R5521:Slc26a8 UTSW 17 28,873,833 (GRCm39) missense probably benign 0.10
R5713:Slc26a8 UTSW 17 28,880,853 (GRCm39) missense probably benign 0.01
R6092:Slc26a8 UTSW 17 28,867,129 (GRCm39) missense probably damaging 1.00
R6135:Slc26a8 UTSW 17 28,888,914 (GRCm39) missense probably benign 0.00
R6372:Slc26a8 UTSW 17 28,863,777 (GRCm39) missense probably benign 0.08
R6543:Slc26a8 UTSW 17 28,857,375 (GRCm39) missense possibly damaging 0.53
R6690:Slc26a8 UTSW 17 28,863,629 (GRCm39) missense possibly damaging 0.52
R6866:Slc26a8 UTSW 17 28,857,455 (GRCm39) missense probably benign 0.27
R7057:Slc26a8 UTSW 17 28,857,371 (GRCm39) missense possibly damaging 0.72
R7423:Slc26a8 UTSW 17 28,867,177 (GRCm39) missense probably benign 0.32
R7496:Slc26a8 UTSW 17 28,863,824 (GRCm39) missense probably benign 0.20
R8387:Slc26a8 UTSW 17 28,866,899 (GRCm39) missense probably benign 0.00
R9422:Slc26a8 UTSW 17 28,857,560 (GRCm39) missense possibly damaging 0.62
R9455:Slc26a8 UTSW 17 28,863,588 (GRCm39) missense probably damaging 1.00
RF015:Slc26a8 UTSW 17 28,857,315 (GRCm39) small deletion probably benign
Z1177:Slc26a8 UTSW 17 28,857,139 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACTGAGCAATCCCACGATG -3'
(R):5'- GCCAAGTCACTTCTGAGGAAC -3'

Sequencing Primer
(F):5'- TGAGCAATCCCACGATGCAAAG -3'
(R):5'- GAACAGATTCCCTACACAGTGTCTTC -3'
Posted On 2018-06-22